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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2829907311
Gene: F8
HGNC
NCBI
Linked Data
ClinVar Variation Id:
10109
ClinVar RCV Id:
RCV000010821
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_063916.1:p.Arg191Leu
CA255018
NM_019863.3:c.572G>T